TH - tyrosine hydroxylase Gene

Also Known as TYH; DYT14; DYT5b

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 7054

About TH

Cytogenetic location: 11p15.5 Genomic coordinates (GRCh38): 11:2,163,929-2,171,815 (from NCBI)

This gene has 11 transcripts (splice variants), 188 orthologues, 3 paralogues and is associated with 3 phenotypes. Restricted expression toward adrenal (RPKM 42.8).

Summary

The protein encoded by this gene is involved in the conversion of tyrosine to dopamine. It is the rate-limiting enzyme in the synthesis of catecholamines, hence plays a key role in the physiology of adrenergic neurons. Mutations in this gene have been associated with autosomal recessive Segawa syndrome. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]

TH Products (3)

mRNA Protein Name
NM_000360.4 NP_000351.2 tyrosine 3-monooxygenase isoform b
NM_199292.3 NP_954986.2 tyrosine 3-monooxygenase isoform a
NM_199293.3 NP_954987.2 tyrosine 3-monooxygenase isoform c
Molecular Function GO Annotation Evidence References Source
enables enzyme binding IPI
IPI: Inferred from physical interaction
19703902 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
11943812 GOA
enables tyrosine 3-monooxygenase activity IDA
IDA: Inferred from direct assay
1680128 GOA
Biological Process GO Annotation Evidence References Source
involved in dopamine biosynthetic process IDA
IDA: Inferred from direct assay
12457228 GOA
involved in epinephrine biosynthetic process IDA
IDA: Inferred from direct assay
12457228 GOA
involved in norepinephrine biosynthetic process IDA
IDA: Inferred from direct assay
12457228 GOA
involved in response to ethanol IDA
IDA: Inferred from direct assay
18343820 GOA
involved in response to hypoxia IDA
IDA: Inferred from direct assay
17520326 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IDA
IDA: Inferred from direct assay
10907721 GOA
located in cytoplasmic side of plasma membrane IDA
IDA: Inferred from direct assay
12457228 GOA
located in cytoplasmic vesicle IDA
IDA: Inferred from direct assay
12457228 GOA
located in melanosome membrane IDA
IDA: Inferred from direct assay
12631248 GOA
located in neuron projection IDA
IDA: Inferred from direct assay
17135716 GOA
located in nucleus IDA
IDA: Inferred from direct assay
21392500 GOA
located in smooth endoplasmic reticulum IDA
IDA: Inferred from direct assay
12457228 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TH Protein Structure

TOH_N

TOH_N: Tyrosine hydroxylase N terminal (2 - 26)

TOH_N

TOH_N: Tyrosine hydroxylase N terminal (37 - 61)

TOH_N

TOH_N: Tyrosine hydroxylase N terminal (62 - 80)

Biopterin_H

Biopterin_H: Biopterin-dependent aromatic amino acid hydroxylase (195 - 525)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 528 a.a.
Protein Preferred Names Protein Names

tyrosine 3-monooxygenase

  • dystonia 14

Recombinant TH Proteins

Cat. No. Product Name Accession Purity
HY-P73564 Tyrosine Hydroxylase Protein, Human (sf9, His) P07101-3 (P2-G497) ≥ 90%, as determined by reducing SDS-PAGE.

TH Antibodies

Cat. No. Product Name Application Reactivity
HY-P80362 Tyrosine Hydroxylase Antibody (YA023) WB, IHC-P, ICC/IF, FC, IF-Tissue Human, Mouse, Rat
HY-P83980 Tyrosine Hydroxylase Antibody (YA3677) WB, IHC-P, FC, ELISA Human, Rat
HY-P83980A Tyrosine Hydroxylase Antibody (YA3677)(PBS only) WB, IHC-P, FC, ELISA Human, Rat
HY-P85701 Tyrosine Hydroxylase Antibody (YA5393) WB, ICC/IF, ELISA Human, Mouse, Rat
HY-P86075 Tyrosine Hydroxylase Antibody (YA5767) WB, IHC-P, ICC/IF, IP, ELISA Human, Mouse, Rat

Related Diseases

Diseases Alias
Segawa Syndrome, Autosomal Recessive
  • Tyrosine Hydroxylase Deficiency

  • Dystonia, Dopa-Responsive, Autosomal Recessive

  • Parkinsonism, Infantile, Autosomal Recessive

  • Segawa Syndrome, Recessive

  • Dyt5b

  • Th-Deficient Drd

  • Tyrosine Hydroxylase-Deficient Dopa-Responsive Dystonia

  • Autosomal Recessive Infantile Parkinsonism

  • Autosomal Recessive Dopa-Responsive Dystonia

  • Autosomal Recessive Dopa Responsive Dystonia

  • Dopa-Responsive Dystonia, Autosomal Recessive

  • Dopa Responsive Dystonia, Autosomal Recessive

  • Dyt/Park-Th

  • Dystonia, Dopa Responsive, Autosomal Recessive

  • Th Deficiency

  • Autosomal Recessive Segawa Syndrome

  • Thy

  • Segawa Syndrome Autosomal Recessive

  • ARSEGS

  • Thd

  • Dystonia, Dopa-Responsive, With Or Without Hyperphenylalaninemia, Autosomal Recessive

Dystonia
  • Dystonic Disease

  • Dystonic Disorder

  • Dystonia Disorders

  • Neuroleptic Dyskinesia

Dystonia, Dopa-Responsive
  • Dystonia 5

  • Dopa-Responsive Dystonia

  • DRD

  • Dyt5

  • Dystonia-Parkinsonism With Diurnal Fluctuation

  • Dyt-Th

  • Hpd With Diurnal Fluctuation

  • Hereditary Progressive Dystonia With Diurnal Fluctuation

  • Dystonia, Progressive, With Diurnal Variation

  • Segawa Syndrome, Autosomal Dominant

  • Dystonia, Dopa-Responsive, Autosomal Dominant

  • Dopa-Responsive Dystonia, Autosomal Dominant

  • Dystonia, Dopa-Responsive, With Or Without Hyperphenylalaninemia

  • Dyt-Gch1

  • Dyt-Spr

  • Dystonia 5, Dopa-Responsive Type

  • Hereditary Progressive Dystonia With Marked Diurnal Fluctuation

  • Autosomal Dominant Dopa-Responsive Dystonia

  • Autosomal Dominant Segawa Syndrome

  • Dystonia-5

  • Progressive Dystonia With Diurnal Fluctuation

  • Dystonia, Type 5, Dopa-Responsive Type

Placental Insufficiency
  • Uteroplacental Vascular Insufficiency

Hyperphenylalaninemia, Bh4-Deficient, B
  • Gtp Cyclohydrolase I Deficiency

  • HPABH4B

  • Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To Gtp Cyclohydrolase I Deficiency

  • Bh4-Deficient Hyperphenylalaninemia B

  • Gtp Cyclohydrolase 1 Deficiency

  • Tetrahydrobiopterin-Deficient Hyperphenylalaninemia B

  • Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To Gtp Cyclohydrolase 1 Deficiency

  • Gtpch Deficiency

  • Hyperphenylalaninemia Due To Gtp Cyclohydrolase Deficiency

  • Atypical Severe Phenylketonuria Due To Gtp Cyclohydrolase I Deficiency

  • Gch1 Deficiency

  • Guanosine Triphosphate Cyclohydrolase I Deficiency

  • Hyperphenylalaninemia With Neopterin Deficiency

Phenylketonuria
  • Phenylalanine Hydroxylase Deficiency

  • PKU

  • Pah Deficiency

  • Folling Disease

  • Maternal Phenylketonuria

  • Phenylketonurias

  • Oligophrenia Phenylpyruvica

  • Hyperphenylalaninemia, Non-Pku Mild

  • Folling'S Disease

  • Phenylalaninemia

  • Mild Phenylketonuria

  • Mild Pku

  • Variant Pku

  • Variant Phenylketonuria

  • Mpku

  • Deficiency Disease, Phenylalanine Hydroxylase

  • Phenylketonuria, Maternal

  • Phenylalanine Hydroxylase Deficiency Disease

  • Hyperphenylalaninemic Embryopathy

  • Maternal Pku

  • Maternal Hyperphenylalaninemia

  • Phenylketonuric Embryopathy

  • Hyperphenylalaninemia

  • HPA

  • Non-Phenylketonuria Hyperphenylalaninemia

  • NON-PKU HPA

  • Phenylketonuria Maternal

  • Classical Phenylketonuria

  • Hyperphenylalaninaemia

  • Pku - [Phenylketonuria]

Mood Disorder
  • Mood Disorders

  • Episodic Mood Disorder

Parkinsonism
  • Parkinsonism-Plus

  • Idiopathic Parkinsonism

  • Primary Parkinsonism

  • Paralysis Agitans Syndrome

  • Parkinsonian Syndrome

  • Trembling Paralysis

  • Paralysis Agitans

  • Shaking Palsy

  • Shaking Paralysis

Pheochromocytoma
  • Pheochromocytoma, Susceptibility To

  • Phaeochromocytoma

  • Adrenal Gland Chromaffin Paraganglioma

  • Adrenal Gland Chromaffinoma

  • Adrenal Gland Paraganglioma

  • Adrenal Gland Pheochromocytoma

  • Chromaffin Paraganglioma Of The Adrenal Gland

  • Intraadrenal Paraganglioma

  • PCC

  • Chromaffin Cell Tumor

  • Medullary Chromaffinoma

  • Medullary Paraganglioma

  • Pheochromoblastoma

  • Pheochromocytomas

  • Chromaffin Cell Neoplasm

  • Pheochromocytoma, Malignant

Sudden Infant Death Syndrome
  • SIDS

  • Sudden Infant Death Syndrome, Susceptibility To

  • Cot Death

  • Crib Death

  • Sudden Death Of Nonspecific Cause In Infancy

  • Sudden Infant Death

  • Death, Sudden, Syndrome, Infant

Multiple System Atrophy 1
  • Multiple System Atrophy

  • Shy-Drager Syndrome

  • Msa

  • MSA1

  • Multiple System Atrophy 1, Susceptibility To

  • Sporadic Olivopontocerebellar Atrophy

  • Multisystem Atrophy

  • Msa1, Susceptibility To

  • Multiple System Atrophy, Susceptibility To

  • Opca

  • Progressive Autonomic Failure With Multiple System Atrophy

  • Sds

Dementia, Lewy Body
  • Lewy Body Dementia

  • Lewy Body Disease

  • Diffuse Lewy Body Disease

  • Dementia With Lewy Bodies

  • DLB

  • Autosomal Dominant Diffuse Lewy Body Disease

  • Cortical Lewy Body Disease

  • Dementia, Lewy Body, Susceptibility To

  • Lewy Body Dementia, Susceptibility To

  • Senile Dementia Of The Lewy Body Type

  • Dementia Of The Lewy Body Type

  • Lbd

  • Diffuse Lewy Body Disease With Gaze Palsy

  • Dysphasic Dementia Hereditary

  • Lewy Body Type Senile Dementia

  • Lewy Body Variant Of Alzheimer Disease

  • Lewy Bodies

  • Lewy Body

  • Dlbd - [Diffuse Lewy Body Disease]

  • Clbd - [Cortical Lewy Body Disease]

Paraganglioma
  • Chemodectoma

  • Glomus Body Tumor

  • Paragangliomas

  • Carotid Body Paraganglioma

  • Extra-Adrenal Paraganglioma

Stiff-Person Syndrome
  • SPS

  • Stiff-Man Syndrome

  • Stiff Man Syndrome

  • Stiff Person Syndrome

  • Moersch-Woltman Syndrome

  • Sms

  • Stiff-Trunk Syndrome

  • Morsch Woltman Syndrome

  • Stiff Person Syndrome And Related Disorders

  • Stiff Person Spectrum Disorder

  • Classic Stiff Person Syndrome

  • Classic Sps

  • Focal Stiff Limb Syndrome

  • Focal Stiff-Person Syndrome

  • Stiff Leg Syndrome

  • Progressive Encephalomyelitis With Rigidity

Parkinson Disease, Late-Onset
  • Parkinson Disease

  • Parkinson'S Disease

  • PD

  • PARK

  • Parkinson Disease, Susceptibility To

  • Late Onset Parkinson'S Disease

  • Late Onset Parkinson Disease

  • Paralysis Agitans

  • Primary Parkinsonism

  • Idiopathic Parkinson Disease

  • Parkinson'S

  • Parkinson Disease, Late-Onset, Susceptibility To

  • Parkinson Disease, Age Of Onset, Modifier

  • Lewy Body Parkinson Disease

  • Idiopathic Parkinson'S Disease

  • Pd - [Parkinson Disease]

  • Parkinson Disease Nos

  • Parkinson, Nos

  • Primary Parkinson Disease

Ganglioglioma
  • Childhood Ganglioglioma

  • Adult Ganglioglioma

  • Cns Ganglioglioma

  • Mixed Cell Tumors Containing Both Neural Ganglionic Cells And Neural Glial Cell Components

Gilles De La Tourette Syndrome
  • Tourette Syndrome

  • Tourette Disorder

  • GTS

  • Ts

  • Gilles De La Tourette'S Syndrome

  • Motor-Verbal Tic Disorder

  • Guinon'S Disease

  • Psychogenic Tics

  • Tourette'S Syndrome

  • Chronic Motor And Vocal Tic Disorder

  • Td

  • Tourette'S Disease

  • Combined Vocal And Multiple Motor Tic Disorder [De La Tourette]

  • Combined Vocal And Multiple Motor Tic Disorder

  • Tic De La Tourette

Bipolar Disorder
  • Bipolar Depression

  • Manic Disorder

  • Depression, Bipolar

  • Bipolar Disorder Manic Phase

  • Depressive-Manic Psych.

  • Manic Bipolar Affective Disorder

  • Manic Bipolar I Disorder

  • Manic Depression

  • Manic Depressive Disorder

  • Mixed Bipolar Disorder

  • Bipolar Affective Disorder

  • Bipolar Affective Psychosis

  • Bipolar Spectrum Disorder

  • Manic Depressive Illness

  • Depression Bipolar

  • Bipolar Disorder, Mixed

  • Major Affective Disorder

  • Major Affective Disorder 1

  • Major Affective Disorder 2

Wolfram Syndrome
  • Didmoad Syndrome

  • Didmoad

  • Diabetes Insipidus And Mellitus With Optic Atrophy And Deafness

  • Wfs

  • Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, And Deafness

  • Didmoadud

  • Diabetes Insipidus-Diabetes Mellitus-Optic Atrophy-Deafness Syndrome

  • Diabetes Insipidus-Diabetes Mellitus-Optic Atrophy-Hearing Loss Syndrome

Rett Syndrome
  • Atypical Rett Syndrome

  • RTT

  • Rett Disorder

  • Rts

  • Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use

  • Rett Syndrome, Preserved Speech Variant

  • Rett Syndrome, Atypical

  • Rett'S Disorder

  • Rett Syndrome Variant

  • Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome

  • Cerebroatrophic Hyperammonemia

  • Rett Like Syndrome

  • Rett'S Syndrome

  • Atypical Rtt

  • Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use

  • Rett Syndrome Preserved Speech Variant

  • Rett Syndrome Zappella Variant

  • Rett Syndrome, Zappella Variant

Von Hippel-Lindau Syndrome
  • Von Hippel-Lindau Disease

  • Vhl

  • Vhl Syndrome

  • VHLS

  • Von Hippel-Lindau Syndrome, Modifier Of

  • Hippel Lindau Syndrome

  • Angiomatosis Retinae

  • Cerebelloretinal Angiomatosis, Familial

  • Hippel-Lindau Disease

  • Familial Cerebelloretinal Angiomatosis

  • Lindau Disease

  • VHLD

Movement Disease
  • Movement Disorders

  • Movement Disorder

Constipation
Multiple Endocrine Neoplasia
  • Men

  • Multiple Endocrine Adenomatosis

  • Multiple Endocrine Neoplasia Syndrome

  • Adenomatosis, Familial Endocrine

  • Endocrine Neoplasia, Multiple

  • Familial Endocrine Adenomatosis

  • Mea

  • Multiple Endocrine Neoplasms

  • Multiple Endocrine Neoplasia Type 1

Supranuclear Palsy, Progressive, 1
  • Progressive Supranuclear Palsy

  • Steele-Richardson-Olszewski Syndrome

  • Supranuclear Palsy, Progressive

  • Progressive Supranuclear Ophthalmoplegia

  • Psp

  • PSNP1

  • Familial Progressive Supranuclear Palsy

  • Richardson'S Syndrome

  • Psp Syndrome

  • Progressive Supranuclear Palsy 1

  • Supranuclear Palsy Progressive

  • Ophthalmoplegia, Supranuclear, Progressive

  • Steele-Richardson-Olszewksi Syndrome

Ganglioneuroblastoma
Borderline Personality Disorder
Personality Disorder
  • Personality Disorders

  • Character Disorder

  • Personality

  • Specific Personality Disorders

  • Enduring Personality Change After Psychiatric Illness

Toxic Encephalopathy
  • Neurotoxicity

  • Neurotoxicity Syndromes

  • Neurotoxicity Syndrome

  • Encephalopathy, Toxic

Dopamine Beta-Hydroxylase Deficiency
  • Noradrenaline Deficiency

  • Norepinephrine Deficiency

  • Dopamine Beta Hydroxylase Deficiency

  • Congenital Dopamine Beta-Hydroxylase Deficiency

  • Dopamine Beta-Hydroxylase Deficiency, Congenital

  • Dopamine Β-Hydroxylase

  • Dbh Deficiency

Gastroparesis
  • Gastroparesis Syndrome

  • Delayed Gastric Emptying

  • Gastric Atonia

  • Gastroparalysis

Central Hypoventilation Syndrome, Congenital, 1
  • Cchs

  • CCHS1

  • Central Hypoventilation Syndrome, Congenital, 1, With Or Without Hirschsprung Disease

  • Central Hypoventilation Syndrome, Congenital

  • Congenital Failure Of Autonomic Control

  • Autonomic Control, Congenital Failure Of

  • Ondine Curse, Congenital

  • Ondine Curse

  • Central Hypoventilation Syndrome, Congenital, 1, With Or Without Hirschsprung

  • Hypoventilation, Central, Syndrome, Congenital, Type 1

  • Congenital Central Hypoventilation

  • Sleep Apnea, Central

  • Central Alveolar Hypoventilation Syndrome

  • Cchs With Hirschsprung Disease

  • Congenital Central Alveolar Hypoventilation Syndrome

  • Sleep-Related Respiratory Failure

  • Hypoventilation

Ganglioneuroma
Amphetamine Abuse
Aromatic L-Amino Acid Decarboxylase Deficiency
  • Aadc Deficiency

  • Dopa Decarboxylase Deficiency

  • Ddc Deficiency

  • Aromatic Amino Acid Decarboxylase Deficiency

  • Deficiency Of Aromatic-L-Amino-Acid Decarboxylase

  • AADCD

  • Aromatic-L-Amino-Acid Decarboxylase Deficiency

  • Aromatic L-Amino-Acid Decarboxylase Deficiency

Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
  • Aqueductal Stenosis

  • Aqueductal Stenosis, X-Linked

  • Hsas

  • Hsas1

  • Hycx

  • Hydrocephalus, X-Linked

  • Xlas

  • X-Linked Hydrocephalus Syndrome

Attention Deficit-Hyperactivity Disorder
  • Attention Deficit Hyperactivity Disorder

  • ADHD

  • Attention Deficit Disorder

  • Attention Deficit-Hyperactivity Disorder, Susceptibility To

  • Attention Deficit Disorder With Hyperactivity

  • Hyperkinetic Disorder

  • Hyperactivity Of Childhood

  • Attention-Deficit/Hyperactivity Disorder

  • Add

  • Addh

  • Attention Deficit

  • Attention Deficit Disorder Of Childhood With Hyperactivity

  • Attention Deficit Disorder With Hyperactivity Syndrome

  • Hyperkinetic Syndrome

  • Attention-Deficit Hyperactivity Disorder

  • Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type

  • Disturbance Of Activity And Attention

  • Disorder Of Activity And Attention

  • Adhd - [Attention Deficit Hyperactivity Disorder]

  • Hyperkinetic Disorders

  • Disorder Of Activity And Attention With Hyperkinesia

  • Attention Deficit Syndrome With Hyperactivity

Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
  • Sepiapterin Reductase Deficiency

  • Spr Deficiency

  • Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency

  • Srd

  • Drd Due To Srd

  • Dopa-Responsive Hypersomnia

  • Dyt-Spr

  • Dyt/Park-Spr

  • Sr-Deficient Drd

  • Autosomal Recessive Sepiapterin Reductase-Deficient Drd

  • Spr

  • DRDSPRD

  • Motor And Cognitive Disorder Due To Sepiapterin Reductase Deficiency

  • Psychomotor Disorders

Hyperphenylalaninemia, Bh4-Deficient, A
  • 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

  • Pts Deficiency

  • HPABH4A

  • Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To Pts Deficiency

  • Ptsd

  • Bh4-Deficient Hyperphenylalaninemia A

  • Hyperphenylalaninemia Due To 6-Pyruvoyltetrahydropterin Synthase Deficiency

  • Tetrahydobioperin-Deficient Hyperphenylalaninemia Due To Pts Deficiency

  • Hyperphenylalanemia, Bh4-Deficient, A

  • Hyperphenylalaninemia Due To 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

  • 6-Pyruvoyltetrahydropterin Synthase Deficiency

  • Hyperphenylalaninemia Tetrahydrobiopterin-Deficient Due To Pts Deficiency

  • Ptpsd

  • Hyperphenylalaninemia, Bh4-Deficient, Type A

Adjustment Disorder
  • Adjustment Reaction

  • Adjustment Disorders

  • Adjustment Disease

  • Brief Situational Non-Psychotic Disorder

  • Adaptation Reaction Nos

  • Emotional Crisis

  • Situational Disorder

  • Situational Disturbance

  • Situational Maladjustment

  • Situational Reaction

  • Situational Reaction With Maladjustment

  • Transient Situational Disturbance

Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
  • APS1

  • Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy

  • Apeced

  • Pga I

  • Hypoadrenocorticism With Hypoparathyroidism And Superficial Moniliasis

  • Autoimmune Polyendocrinopathy Syndrome , Type I, With Or Without Reversible Metaphyseal Dysplasia

  • Polyglandular Autoimmune Syndrome, Type 1

  • Autoimmune Polyglandular Syndrome Type 1

  • Autoimmune Polyendocrine Syndrome Type 1

  • Autoimmune Polyendocrinopathy Syndrome Type 1

  • Whitaker Syndrome

  • Aps Type 1

  • Polyglandular Type I Autoimmune Syndrome

  • Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Syndrome

  • Aps I

  • Autoimmune Polyglandular Syndrome, Type I

  • Polyglandular Autoimmune Syndrome, Type I

  • Aps 1

  • Autoimmune Polyglandular Syndrome Type I

  • Pga 1

  • Pga-I

  • Polyglandular Autoimmune Syndrome Type 1

  • Type I Polyglandular Autoimmune Syndrome

  • Aire Deficiency

  • Autoimmune Polyendocrinopathy With Candidiasis And Ectodermal Dystrophy

  • Autoimmune Polyglandular Syndrome, Type 1

  • Autoimmune Polyendocrinopathy Type 1

  • Apeced Syndrome

  • Autoimmune Hypoparathyroidism-Chronic Candidiasis-Addison Disease Syndrome

  • Ham Syndrome

  • Hypoparathyroidism-Addison Disease-Mucocutaneous Candidiasis Syndrome

  • Medac Syndrome

  • Multiple Endocrine Deficiency-Addison Disease-Candidiasis Syndrome

  • Autoimmune Polyendocrine Syndrome 1, With Or Without Reversible Metaphyseal Dysplasia

  • Aps-1

  • Autoimmune Polyendocrine Syndrome Type I

  • Autoimmune Polyendocrinopathy Syndrome Type I

  • Autosomal Dominant Autoimmune Polyendocrinopathy Syndrome Type I

  • Polyglandular Autoimmune Syndrome Type I

  • Polyglandular Deficiency Syndrome Persian-Jewish Type

  • Autoimmune Polyendocrinopathy Syndrome, Type I, Autosomal Dominant

  • Polyendocrinopathy Autoimmune, Type 1, With/Without Reversible Metaphyseal Dysplasia

Hyperphenylalaninemia
  • Hyperphenylalaninaemia

Schizophrenia
  • SCZD

  • Schizophrenia With Or Without An Affective Disorder

  • Schizophrenia 12

  • Schizophrenia, Susceptibility To

  • Schizophrenia-1

  • Dementia Praecox

  • Schizophrenia 1

Dementia
  • Dementias

  • Presenile Dementia

  • Alzheimer Type Dementia

  • Alzheimer Sclerosis

  • Alzheimer Disease Dementia

  • Alzheimer Dementia

  • Primary Degenerative Alzheimer Type Dementia

  • End Stage Alzheimer'S Dementia

  • Alzheimer'S Type Atypical Dementia

  • Alzheimer Type Presenile Dementia

  • Early Onset Alzheimer Dementia

  • Dementia In Alzheimer Disease Type 2

  • Dementia In Alzheimer Disease With Early Onset

  • Early Onset Alzheimer Type Dementia, Uncomplicated

  • Primary Degenerative Alzheimer Type Dementia, Early Onset

  • Primary Degenerative Alzheimer Type Dementia, Presenile Onset, Uncomplicated

  • Alzheimer Disease Dementia With Early Onset

  • Presenile Sclerosis

  • Presenile Brain Sclerosis

  • Presenile Alzheimer Brain Sclerosis

  • Late Onset Alzheimer Dementia

  • Dementia In Alzheimer Disease Type 1

  • Dementia In Alzheimer Disease With Late Onset

  • Primary Degenerative Alzheimer Type Dementia, Late Onset

  • Sdat - [Senile Dementia, Alzheimer Type]

  • Alzheimer Disease Dementia With Late Onset

  • Late Onset Alzheimer Brain Sclerosis

  • Senile Alzheimer Brain Disease

  • Senile Alzheimer Brain Sclerosis

  • Senile Primary Degenerative Alzheimer Type Dementia

  • Senile Dementia Of The Alzheimer Type

  • Arteriosclerotic Dementia

  • Strategic-Infarct Dementia

  • Post Stroke Dementia

  • Vascular Cognitive Impairment

  • Vascular Dementia

  • Dementia Of The Lewy Body Type

  • Dementia With Lewy Bodies

  • Sdlt - [Senile Dementia Of The Lewy Body Type]

  • Senile Dementia Of The Lewy Body Type

  • Alcohol-Related Dementia

  • Alcoholic Dementia Nos

  • Alcohol-Induced Dementia

  • Alcoholic Brain Syndrome

  • Chronic Alcoholic Brain Syndrome

  • Alcohol Dementia

  • Late Onset Alcoholic Psychosis

  • Residual And Late-Onset Alcohol-Induced Psychotic Disorder

  • Mental And Behavioural Disorders Due To Use Of Sedatives Or Hypnotics, Residual And Late-Onset Psychotic Disorder

  • Late-Onset Psychoactive Substance-Induced Psychotic Disorder

  • Inhalant Dementia

  • Volatile Solvents Dementia

  • Dementia In Paralysis Agitans

  • Pdd - [Parkinson Disease Dementia]

  • Dementia Syndrome Of Parkinson Disease

  • Dementia In Parkinson Disease

  • Parkinson Related Dementia

  • Dementia In Huntington Chorea

  • Hiv - [Human Immunodeficiency Virus] Dementia

  • Hiv- [Human Immunodeficiency Virus] Associated Cognitive Motor Complex

  • Hiv- [Human Immunodeficiency Virus] Associated Dementia Complex

  • Aids - [Acquired Immunodeficiency Syndrome] Dementia Complex

  • Aids Related Dementia

  • Dementia Due To Niacin Deficiency

Rhabdomyosarcoma 2
  • Alveolar Rhabdomyosarcoma

  • Rhabdomyosarcoma, Alveolar

  • Rhabdomyosarcoma Alveolar

  • RMS2

  • Rmsa

  • Rhabdomyosarcoma 2, Alveolar

  • Alveolar Childhood Rhabdomyosarcoma

  • Arms

  • Rhabdomyosarcoma, Type 2

Major Depressive Disorder
  • Seasonal Affective Disorder

  • Unipolar Depression

  • Depression

  • MDD

  • Depressive Disorder

  • Unipolar Depression, Susceptibility To

  • Major Depressive Disorder 1

  • Major Depressive Disorder, Response To Citalopram Therapy In

  • Major Depressive Disorder 2

  • Winter Depression

  • Single Major Depressive Episode

  • Sad

  • Clinical Depression

  • Major Depression

  • Depressive Syndrome

  • Major Depressive Disorder And Accelerated Response To Antidepressant Drug Treatment

  • Seasonal Affective Disorder, Susceptibility To

  • Recurrent Major Depression

  • Affective Disorder, Seasonal

  • Depression In A Seasonal Pattern

  • Depression

  • Seasonal

  • Major Depressive Disorder With A Seasonal Pattern

  • Seasonal Depression

  • Seasonal Mood Disorder

  • Mental Depression

  • Recurrent Major Depressive Episodes

Peripheral Nervous System Benign Neoplasm
Autonomic Nervous System Benign Neoplasm
Alcohol Dependence
  • Alcoholism

  • Alcohol Dependence, Susceptibility To

  • Alcohol Dependence, Protection Against

  • Aerodigestive Tract Cancer, Squamous Cell, Alcohol-Related, Protection Against

  • Alcoholism, Susceptibility To

  • Alcoholic Intoxication, Chronic

  • Pharyngeal Neoplasms

  • Chronic Alcoholism

  • Dipsomania

  • Alcohol Addiction

  • Ethanol Dependence

  • Chronic Ethanolism

  • Chronic Alcoholic Disease Nos

  • Alcoholic Disease Nos

  • Alcoholic

Striatonigral Degeneration
Oculogyric Crisis
Postencephalitic Parkinson Disease
  • Postencephalitic Parkinsonism

  • Parkinson Disease, Postencephalitic

Neonatal Hypoxic And Ischemic Brain Injury
  • Perinatal Asphyxia

  • Hypoxic-Ischemic Encephalopathy

  • Perinatal Hypoxia

  • Hie

  • Hypoxic And Ischemic Brain Injury In The Newborn

  • Encephalopathy, Hypoxic Ischemic

  • Encephalopathies Hypoxic-Ischemic

  • Hypoxic Ischemic Encephalopathy

  • Hypoxic Ischaemic Brain Injury

  • Brain Hypoxia

  • Cerebral Hypoxia

  • Hypoxic Encephalopathy

  • Hypoxic Brain Damage

  • Hypoxic Brain Injury

  • Brainstem Hypoxia

  • Hypoxic Brainstem Damage

Psychotic Disorder
  • Psychotic Disorders

  • Mental Or Behavioural Disorder

  • Psychotic

  • Mental Disorders

Anxiety
  • Anxiety Disorder

  • Anxiety Disorders

  • Anxiety State

  • Anxieties

  • Anxiety Neurosis

Diabetic Autonomic Neuropathy
  • Diabetic Neuropathies

Morphine Dependence
Neuroblastoma
  • Nb

  • Neuroblastoma, Susceptibility To

  • Neuroblastomas

  • Central Neuroblastoma

Beckwith-Wiedemann Syndrome
  • Wiedemann-Beckwith Syndrome

  • BWS

  • Exomphalos-Macroglossia-Gigantism Syndrome

  • Emg Syndrome

  • Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation

  • Emg Abnormality

  • Wbs

  • Exomphalos Macroglossia Gigantism Syndrome

  • Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation

  • Macroglossia Exomphalos Gigantism

Impulse Control Disorder
  • Disruptive, Impulse Control, And Conduct Disorders

Huntington Disease
  • Huntington'S Disease

  • Huntington Chorea

  • Huntington'S Chorea

  • HD

  • Huntington Chronic Progressive Hereditary Chorea

  • Juvenile Huntington Disease

  • Chronic Progressive Chorea

  • Chronic Progressive Hereditary Chorea

  • Hc - [Huntington Chorea]

  • Hereditary Chorea

  • Progressive Hereditary Chorea

Congenital Central Hypoventilation Syndrome
  • Cchs

  • Haddad Syndrome

  • Ondine Curse

  • Ondine Syndrome

  • Congenital Central Hypoventilation

  • Congenital Central Alveolar Hypoventilation Syndrome

  • Congenital Failure Of Autonomic Control

  • Ondine'S Curse

  • Primary Alveolar Hypoventilation

  • Ondine-Hirschsprung Disease

  • Central Congenital Hypoventilation Syndrome

  • Congenital Ondine Curse

  • Idiopathic Congenital Central Alveolar Hypoventilation

  • Congenital Central Alveolar Hypoventilation-Hirschsprung Disease Syndrome

  • Ondine-Hirschsprung Syndrome

Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
  • Guam Disease

  • Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex Of Guam

  • Als-Pdc

  • Lytico-Bodig Disease

  • Amyotrophic Lateral Sclerosis-Parkinsonism-Dementia Complex

  • Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1, Susceptibility To

  • Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex, Susceptibility To

  • Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex

  • Amyotrophic Lateral Sclerosis-Parkinsonism-Dementia Of Guam Syndrome

  • Parkinsonism-Dementia-Als Complex

  • Pdals

  • Amyotrophic Lateral Sclerosis, Parkinsonism/Dementia Complex Of Guam

  • Parkinson-Dementia Complex Of Guam

  • G-Pdc

  • Guam Parkinsonism-Dementia Complex

  • ALS-PDC1

  • Als/Pdc Of Guam

  • Amyotrophic Lateral Sclerosis

  • Sclerosis, Lateral, Amyotrophic/Parkinsonism/Dementia Complex 1

  • Amyotrophic Lateral Sclerosis, Guam Form

  • Parkinsonian Disorders

Hypertension, Essential
  • Essential Hypertension

  • Hypertension

  • High Blood Pressure

  • Hypertension, Essential, Susceptibility To

  • Hypertensive Disease

  • Primary Hypertension

  • EHT

  • Hypertension, Salt-Sensitive Essential, Susceptibility To

  • Hyperpiesia

  • Idiopathic Hypertension

  • Hypertensive Disorder

  • Hypertension, Essential, Susceptibility To, 3

  • Hypertension, Essential 3

  • Hypertension, Essential, Salt-Sensitive

  • Hypertension, Essential, Susceptibility To, 6

  • Hypertension, Essential 6

  • Hypertension, Salt-Sensitive Essential

  • Hypertension, Susceptibility To

  • Hypertension, Essential, Susceptibility To, 4

  • Hypertension, Essential 4

  • Hypertension, Essential, Susceptibility To, 2

  • Hypertension, Essential 2

  • Hypertension, Essential, Susceptibility To, 1

  • Hypertension, Essential 1

  • Hypertension, Essential, Susceptibility To, 5

  • Hypertension, Essential 5

  • Htn

  • Vascular Hypertensive Disorder

  • Systemic Primary Arterial Hypertension

  • Hbp - [High Blood Pressure]

  • Systemic Arterial Hypertensive Disorder

  • Elevated Blood Pressure

  • Arterial Hypertension Nos

  • Hypertension Nos

  • Benign Hypertension

  • Systemic Arterial Hypertension

  • Systemic Hypertension

  • Artery Htn

  • Benign Htn

  • Vascular Htn

  • Vascular Hypertension

  • Cholesterol Hypertension

  • Cholesterol Htn

  • Idiopathic Htn

  • Malignant Hypertension

  • Malignant Htn

  • Raised Blood Pressure

  • Cardiovascular Hypertension

  • Primary Htn - [Hypertension]

  • High Arterial Tension

  • High Blood Pressure Disorder

  • Ht - [Hypertension]

  • Htn - [Hypertension]

  • Hypertensive Vascular Disease

  • Hypertensive Vascular Degeneration

Developmental And Epileptic Encephalopathy 47
  • DEE47

  • Epileptic Encephalopathy, Early Infantile, 47

  • Eiee47

  • Developmental And Epileptic Encephalopathy, 47

  • Early Infantile Epileptic Encephalopathy 47

Sleep Disorder
  • Sleep Disorders

  • Non-Organic Sleep Disorder

Dissociated Nystagmus
Autonomic Nervous System Disease
  • Autonomic Nervous System Dysfunction

  • Autonomic Nervous System Disorders

  • Autonomic Nervous System Disorder

  • Autonomic Nervous System Diseases

  • Abnormality Of The Autonomic Nervous System

Hearing Loss, Noise-Induced
  • Noise-Induced Hearing Loss

  • NIHL

  • Hearing Loss, Noise-Induced, Susceptibility To

  • Hearing Loss Noise-Induced

  • Noise Induced Hearing Loss

Esophageal Atresia
  • Tracheoesophageal Fistula

  • Congenital Atresia Of Esophagus

  • Congenital Imperforate Esophagus

  • Imperforate Esophagus

  • Oesophageal Atresia

  • Te Fistula

  • Tef

  • Tracheoesophageal Fistula With Or Without Esophageal Atresia

Parkinson Disease 4, Autosomal Dominant
  • Autosomal Dominant Parkinson Disease 4

  • PARK4

  • Parkinson Disease 4, Autosomal Dominant Lewy Body

  • Parkinson Disease 4

  • Parkinson'S Disease 4

  • Autosomal Dominant Lewy Body Parkinson Disease 4

  • Autosomal Dominant Parkinson'S Disease 4

  • Parkinson Disease 4 Autosomal Dominant Lewy Body

  • Parkinson Disease Autosomal Dominant 4

  • Parkinson Disease Familial Type 4

  • Parkinson Disease, Type 4

Autonomic Nervous System Neoplasm
  • Tumor Of Autonomic Nervous System

Alzheimer Disease, Familial, 1
  • Alzheimer Disease

  • Alzheimer'S Disease

  • Presenile And Senile Dementia

  • AD1

  • Alzheimer Disease, Susceptibility To

  • Alzheimer Disease, Late-Onset, Susceptibility To

  • Alzheimer Disease 1, Familial

  • AD

  • Familial Alzheimer Disease

  • Alzheimer Disease, Late-Onset

  • Alzheimers Dementia

  • Alzheimer Dementia

  • Alzheimer Sclerosis

  • Alzheimer Syndrome

  • Alzheimer-Type Dementia

  • Dat

  • Primary Senile Degenerative Dementia

  • Sdat

  • Alzheimer Disease 1

  • Autosomal Dominant Alzheimer Disease

  • Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy

  • Late Onset Alzheimer Disease

  • Alzheimers Disease

  • Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy

  • Late-Onset Alzheimers Disease

  • Alzheimer'S Disease Pathway Kegg

  • Dementia Due To Alzheimer'S Disease

  • Alzheimer Disease Type 1

  • Alzheimers

Peripheral Nervous System Neoplasm
  • Peripheral Nervous System Neoplasms

  • Nerve Sheath Neoplasm

  • Neoplasm Of Peripheral Nerve

  • Tumor Of Pns

  • Nerve Sheath Neoplasms

  • Nerve Sheath Tumors

Amyotrophic Lateral Sclerosis 1
  • Amyotrophic Lateral Sclerosis

  • ALS

  • Lou Gehrig Disease

  • Amyotrophic Lateral Sclerosis Type 1

  • Charcot Disease

  • ALS1

  • Amyotrophic Lateral Sclerosis, Susceptibility To

  • Fals

  • Lou Gehrig'S Disease

  • Mnd

  • Motor Neuron Disease

  • Familial Amyotrophic Lateral Sclerosis

  • Amyotrophic Lateral Sclerosis 1, Familial

  • Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

  • Motor Neuron Disease, Bulbar

  • Motor Neurone Disease

  • Amyotrophic Lateral Sclerosis With Dementia

  • Dementia With Amyotrophic Lateral Sclerosis

  • Motor Neuron Disease, Amyotrophic Lateral Sclerosis

  • Sclerosis, Lateral, Amyotrophic

  • Sclerosis, Lateral, Amyotrophic, Type 1

  • Amyotrophic Sclerosis

  • Als - [Amyotrophic Lateral Sclerosis]

  • Wasting Palsy

  • Amyotrophic Paralysis

  • Amyotrophy Lateral Sclerosis

  • Wasting Paralysis

  • Spinal Progressive Amyotrophy

  • Progressive Atrophic Paralysis

Disease Of Mental Health
  • Mental Health

  • Mental Disorders

Choreatic Disease
  • Chorea

  • Hereditary Chorea

Specific Developmental Disorder
Peripheral Nervous System Disease
  • Peripheral Neuropathy

  • Peripheral Nerve Disease

  • Peripheral Nerve Disorders

  • Neuropathy, Peripheral

  • Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Stroke, Ischemic
  • Cerebral Infarction

  • Stroke

  • Ischemic Stroke

  • Cerebrovascular Accident

  • Cerebral Infarction, Susceptibility To

  • Stroke, Ischemic, Susceptibility To

  • Cerebral Infarct

  • Ischemic Stroke, Susceptibility To

  • Stroke, Susceptibility To

  • Cva - Cerebral Infarction

  • ISCHSTR

  • Ischemic Cerebrovascular Accident

Type 2 Diabetes Mellitus
  • Insulin Resistance

  • NIDDM

  • Type 2 Diabetes

  • Diabetes Mellitus, Non-Insulin-Dependent

  • T2D

  • Noninsulin-Dependent Diabetes Mellitus

  • Diabetes Mellitus, Type Ii

  • Maturity-Onset Diabetes

  • Insulin Resistance, Severe, Digenic

  • Diabetes Mellitus, Type 2

  • Diabetes Mellitus, Noninsulin-Dependent

  • Diabetes Mellitus, Noninsulin-Dependent, Association With

  • Diabetes Mellitus, Noninsulin-Dependent, Late Onset

  • Hypertension, Insulin Resistance-Related, Susceptibility To

  • Insulin Resistance, Susceptibility To

  • Non-Insulin-Dependent Diabetes Mellitus

  • Type Ii Diabetes Mellitus

  • Adult-Onset Diabetes Mellitus

  • Maturity-Onset Diabetes Mellitus

  • Diabetes Mellitus Type 2

  • Type Ii Diabetes

  • Type 2 Diabetes Mellitus, Susceptibility To

  • Diabetes, Type 2

  • Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To

  • Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To

  • Diabetes Mellitus, Type 2, Susceptibility To

  • Diabetes Mellitus, Noninsulin-Dependent, 2

  • Diabetes Mellitus, Type Ii, Susceptibility To

  • Hypertension, Insulin Resistance-Related

  • Adult-Onset Diabetes

  • Aodm

  • Diabetes Mellitus, Adult-Onset

  • Diabetes Mellitus Type Ii

  • Diabetes Mellitus Type 2, Susceptibility To

  • Diabetes, Type Ii, Susceptibility To

  • Diabetes Type 2

  • Diabetes Mellitus

  • Adult Onset Diabetes

  • Maturity Onset Diabetes

  • Nonketotic Diabetes

  • Non-Insulin Dependent Diabetes Mellitus

  • T2dm - [Type 2 Diabetes Mellitus]

  • Niddm - [Non Insulin Dependent Diabetes Mellitus]

  • Dm2

  • Dm Type Ii

  • Diabetic Type 2

  • Insulin Requiring Type 2 Diabetes

  • Noninsulin Dependent Diabetes

  • Non-Insulin-Dependent Diabetes Mellitus Without Complications

  • Diabetes Due To Insulin Secretory Defect

  • Diabetes Mellitus Due To Insulin Secretory Defect

  • Non-Insulin-Dependent Diabetes Of The Young

  • Senile Diabetes

  • Nonketotic Hyperglycaemia

  • Stable Diabetes

Nervous System Disease
  • Abnormality Of The Nervous System

  • Nervous System Diseases

  • Nervous System Disorder

Hirschsprung Disease 1
  • Hirschsprung Disease

  • Aganglionic Megacolon

  • Hscr

  • Hirschsprung'S Disease

  • Congenital Megacolon

  • Congenital Intestinal Aganglionosis

  • Colonic Aganglionosis

  • Hirschsprung Disease, Susceptibility To, 1

  • Hirschsprung Disease, Protection Against

  • HSCR1

  • Mgc

  • Pelvirectal Achalasia

  • Total Intestinal Aganglionosis

  • Megacolon, Aganglionic

  • Macrocolon

  • Hscr 1

  • Hirschsprung Disease Type 1

  • Hirschsprung Disease, Type 1

  • Congenital Dilatation Of Colon

  • Aganglionosis

  • Congenital Aganglionic Megacolon

  • Aganglionosis Of Colon

  • Bowel Aganglionosis

  • Colon Aganglionosis

  • Hirschsprung Megacolon

Mitochondrial Complex I Deficiency, Nuclear Type 1
  • Mitochondrial Complex I Deficiency

  • Nadh:Q(1) Oxidoreductase Deficiency

  • MC1DN1

  • Nadh-Coenzyme Q Reductase Deficiency

  • Isolated Mitochondrial Respiratory Chain Complex I Deficiency

  • Isolated Nadh-Coenzyme Q Reductase Deficiency

  • Isolated Nadh-Coq Reductase Deficiency

  • Isolated Nadh-Ubiquinone Reductase Deficiency

  • Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of

  • Nuclear Type Mitochondrial Complex I Deficiency 1

  • Isolated Complex I Deficiency

  • Complex 1 Mitochondrial Respiratory Chain Deficiency

  • Nadh Coenzyme Q Reductase Deficiency

  • Complex I Mitochondrial Respiratory Chain Deficiency

  • Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I

  • Nadh:Ubiquinone Oxidoreductase Deficiency

  • Complex I, Mitochondrial Respiratory Chain, Deficiency Of

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus TH VGNC VGNC:66147
Rattus norvegicus TH RGD RGD:3853
Bos taurus TH VGNC VGNC:35816
Canis familiaris TH VGNC VGNC:47322
Mus musculus TH MGD MGI:98735
Macaca mulatta TH VGNC VGNC:78342
Others TH NCBI